CA3049457C - Procedes d'evaluation non invasive de variations du nombre de copies - Google Patents

Procedes d'evaluation non invasive de variations du nombre de copies Download PDF

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Publication number
CA3049457C
CA3049457C CA3049457A CA3049457A CA3049457C CA 3049457 C CA3049457 C CA 3049457C CA 3049457 A CA3049457 A CA 3049457A CA 3049457 A CA3049457 A CA 3049457A CA 3049457 C CA3049457 C CA 3049457C
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probe
nucleic acid
consensus sequences
oligonucleotides
coverage quantification
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CA3049457A
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CA3049457A1 (fr
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Yijin WU
Amin MAZLOOM
Yang Zhong
Mostafa AZAB
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Sequenom Inc
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Sequenom Inc
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    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Artificial Intelligence (AREA)
  • Data Mining & Analysis (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Microbiology (AREA)
  • Databases & Information Systems (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

La technologie selon la présente invention concerne en partie des procédés, des processus, des machines et des appareils pour l'évaluation non invasive de variations du nombre de copies. En particulier, l'invention concerne un procédé pour déterminer la présence ou l'absence d'une variation du nombre de copies pour un sujet d'essai. Le procédé comprend la fourniture d'un ensemble de lectures de séquence. Les lectures de séquence peuvent être obtenues à partir d'un acide nucléique d'échantillon acellulaire circulant à partir d'un échantillon d'essai obtenu à partir du sujet d'essai, et l'acide nucléique d'échantillon acellulaire circulant peut être capturé par des oligonucléotides sondes dans des conditions d'hybridation. Le procédé comprend en outre la détermination d'une quantification de couverture de sonde des lectures de séquence pour les oligonucléotides sondes et la détermination de la présence ou l'absence d'une variation du nombre de copies dans l'acide nucléique d'échantillon acellulaire circulant sur la base de la quantification de couverture de sonde des lectures de séquence pour les oligonucléotides sondes pour l'échantillon d'essai.
CA3049457A 2017-01-20 2018-01-22 Procedes d'evaluation non invasive de variations du nombre de copies Active CA3049457C (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
CA3194621A CA3194621A1 (fr) 2017-01-20 2018-01-22 Procedes d'evaluation non invasive de variations du nombre de copies

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201762448594P 2017-01-20 2017-01-20
US62/448,594 2017-01-20
PCT/US2018/014714 WO2018136882A1 (fr) 2017-01-20 2018-01-22 Procédés d'évaluation non invasive de variations du nombre de copies

Related Child Applications (1)

Application Number Title Priority Date Filing Date
CA3194621A Division CA3194621A1 (fr) 2017-01-20 2018-01-22 Procedes d'evaluation non invasive de variations du nombre de copies

Publications (2)

Publication Number Publication Date
CA3049457A1 CA3049457A1 (fr) 2018-07-26
CA3049457C true CA3049457C (fr) 2023-05-16

Family

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Family Applications (2)

Application Number Title Priority Date Filing Date
CA3049457A Active CA3049457C (fr) 2017-01-20 2018-01-22 Procedes d'evaluation non invasive de variations du nombre de copies
CA3194621A Pending CA3194621A1 (fr) 2017-01-20 2018-01-22 Procedes d'evaluation non invasive de variations du nombre de copies

Family Applications After (1)

Application Number Title Priority Date Filing Date
CA3194621A Pending CA3194621A1 (fr) 2017-01-20 2018-01-22 Procedes d'evaluation non invasive de variations du nombre de copies

Country Status (4)

Country Link
US (2) US11929143B2 (fr)
EP (1) EP3571614A1 (fr)
CA (2) CA3049457C (fr)
WO (1) WO2018136882A1 (fr)

Families Citing this family (7)

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Publication number Priority date Publication date Assignee Title
US20230011085A1 (en) * 2019-12-12 2023-01-12 Koninklijke Philips N.V. Method and system for determining a cnv profile for a tumor using sparse whole genome sequencing
EP4081665A4 (fr) * 2019-12-24 2024-01-10 Lexent Bio, Inc. Procédés et systèmes d'évaluation moléculaire de maladie par analyse de l'adn tumoral circulant
CN111968701B (zh) * 2020-08-27 2022-10-04 北京吉因加科技有限公司 检测指定基因组区域体细胞拷贝数变异的方法和装置
CA3225581A1 (fr) * 2021-06-30 2023-01-05 Laboratory Corporation Of America Holdings Detection de variation du nombre de copies chromosomiques et sous-chromosomiques
CN113889187B (zh) * 2021-09-24 2022-12-06 上海仁东医学检验所有限公司 单样本等位基因拷贝数变异检测方法、探针组和试剂盒
CN114283881A (zh) * 2021-12-29 2022-04-05 广州解序基因科技有限公司 地中海贫血Panel数据CNV分析系统
CN116013419A (zh) * 2022-12-30 2023-04-25 深圳华大基因股份有限公司 检测染色体拷贝数变异的方法

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Publication number Priority date Publication date Assignee Title
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
AU2003298733B2 (en) 2002-11-27 2009-06-18 Agena Bioscience, Inc. Fragmentation-based methods and systems for sequence variation detection and discovery
JP5149013B2 (ja) 2004-11-29 2013-02-20 セクエノム，インコーポレイティド メチル化ｄｎａを検出する手段、及び方法
EP3617321B1 (fr) 2006-05-31 2024-10-23 Sequenom, Inc. Kit pour l'extraction et l'amplification d'acide nucléique à partir d'un échantillon
JP2009540802A (ja) 2006-06-16 2009-11-26 セクエノム， インコーポレイテッド サンプルからの核酸を増幅、検出および定量するための方法および組成物
WO2009032779A2 (fr) 2007-08-29 2009-03-12 Sequenom, Inc. Procédés et compositions utilisés dans la séparation, en fonction de sa taille, de l'acide nucléique d'un échantillon
WO2009032781A2 (fr) 2007-08-29 2009-03-12 Sequenom, Inc. Méthodes et compositions s'appliquant à une amplification en chaîne par polymèrase universelle spécifique de la taille
WO2009120808A2 (fr) 2008-03-26 2009-10-01 Sequenom, Inc. Détection de séquence polymorphique amplifiée par endonucléase de restriction
EP3103871B1 (fr) 2008-09-16 2020-07-29 Sequenom, Inc. Procédés pour l'enrichissiment en acide nucleic fétal d'un échantillon maternel, basé sur la méthylation et utilisation pour la quantification de l'acide nucleique fétal
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WO2011143659A2 (fr) 2010-05-14 2011-11-17 Fluidigm Corporation Méthodes d'isolement de l'acide nucléique
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Also Published As

Publication number Publication date
WO2018136882A1 (fr) 2018-07-26
US20190371428A1 (en) 2019-12-05
CA3194621A1 (fr) 2018-07-26
CA3049457A1 (fr) 2018-07-26
US20240233866A1 (en) 2024-07-11
EP3571614A1 (fr) 2019-11-27
US11929143B2 (en) 2024-03-12

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